Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases

Am J Med Genet. 1991 Nov 1;41(2):176-9. doi: 10.1002/ajmg.1320410208.

Abstract

We describe 2 patients with bilateral right-angle bowing of femora, absence of fibulae, and reduced, flattened and nail-less toes and symmetrical fingernail deficiency in a consanguineous family of ethnic South Vietnamese Baptists and a non-consanguineous Polish family. These cases are similar to those reported by Fuhrmann et al. (in "Skeletal Dysplasias," New York: Alan R. Liss, Inc., pp 519-524), indicating possible autosomal recessive inheritance of this rare non-lethal limb malformation syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Consanguinity
  • Female
  • Femur / abnormalities*
  • Fibula / abnormalities*
  • Foot Deformities, Congenital / genetics*
  • Genes, Recessive
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities
  • Nails, Malformed
  • Pubic Bone / abnormalities*